NM_000287.4:c.611C>G

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HGVS Expressions

  • NG_008370.1:g.5704C>G
  • NM_000287.4:c.611C>G
  • NP_000278.3:p.Ser204Ter
  • NC_000006.12:g.42978540G>C

Associated Genes

Peroxisome Biogenesis Factor 6
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

773056086

Clinvar

973460

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614862.1United Arab Emirates2PathogenicPeroxisome Biogenesis Disorder 4A (Zellweger)Al-Shamsi et al. 2014; Ali et al. 2011 Patient with Zellweger syndrome
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Contributors

  • Pratibha Nair: 18.06.2020

Edit History

  • Pratibha Nair: 09.11.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 18.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.